摘要
目的探讨聚集素(clusterin,CLU)基因rs11136000位点及rs9331888位点多态性与新疆哈萨克族(简称哈族)及汉族散发性阿尔茨海默病(Alzheimer’s disease,SAD)相关性。方法运用病例对照研究,采用Kas P PCR技术和基因测序法测定CLU rs11136000及rs9331888位点的基因型及等位基因。结果 (1) CLU基因rs11136000位点基因型及等位基因分布在SAD及正常对照组差异有统计学意义(P <0. 05)。哈族SAD组CLU基因rs11136000位点T等位基因及TT基因型频率显著低于对照组(χ~2=8. 809,P=0. 003;χ~2=8. 242,P=0. 016)。携带T等位基因者(TT+TG基因型)相比携带GG基因型者AD发病风险降低63. 9%(OR=0. 361,P=0. 007)。汉族SAD CLU基因rs11136000位点基因型及等位基因与对照组之间差异均无统计学意义(P> 0. 05)。(2) CLU rs9331888位点等位基因(C、G)及基因型(CC、CG、GG)频率差异无统计学意义(P> 0. 05)。(3) rs9331888、rs11136000两位点存在连锁不平衡(D’=0. 764),单体型分析显示有C-C、C-G、T-G 3种单体型,频率分布差异无统计学意义(P> 0. 05)。结论 CLU基因rs11136000位点多态性与新疆哈族AD发生可能有关,携带T等位基因对降低AD发病可能有一定的保护作用; CLU基因9331888位点可能与新疆SAD的发生无相关性。
Objective Investigating the assocation between rs11136000 and rs9331888 polymorphisms of clusterin( CLU) gene and sporadic Alzheimer’s disease( SAD) in Xinjiang Kazakh and Han nationality. Methods A case-control study,The genotypes and alleles of the CLU rs11136000 and rs9331888 loci were determined by Kas P PCR and gene sequencing. Results( 1) The genotype and allele distribution of CLU gene rs11136000 was significantly different between the SAD and the control group( P < 0. 05). The frequency of T allele and TT genotype in the rs11136000 site of the SAD CLU gene was significantly lower in the Kazakh group than in the control group( χ~2= 8. 809,P = 0. 003;χ~2= 8. 242,P =0. 016);The TT + TG genotype carrying the T allele was associated with decreased SAD risk,which was 63. 9% lower than that of the GG genotype( OR = 0. 361,P = 0. 007). There was no significant difference in the genotypes and alleles of the rs11136000 locus of the CLU gene in the Han nationality SAD( P > 0. 05).( 2) There was no significant difference in the frequencies of CLU rs9331888 alleles( C,G) and genotypes( CC,CG,GG) between the Han and Kazakh nationalities( P >0. 05).( 3) rs9331888 and rs11136000 linkage disequilibrium tests showed that there were linkage disequilibrium between the two sites( D’= 0. 764). The haplotype analysis showed that there was no statistically significant difference in the frequency distribution of the three haplotypes of C-C、C-G、and T-G. Conclusions(1) The rs111 The rs11136000 polymorphism of CLU gene maybe associated with the development of Xinjiang Kazakh AD. Carrying the T allele( TT + TG genotype) may have a protective effect on the pathogenesis of AD;CLU gene 9331888 may not be significantly related to SAD in Xinjiang.
作者
张玉洁
陆洁
孟新玲
许奔奔
徐梦
张燕
ZHAN Yujie;LU Jie;MENG Xinling(Department of Neurology,Traditional Chinese Medicine Hospital of Xinjiang Uygur Autonomous Region,Urumqi 830000,China)
出处
《中风与神经疾病杂志》
CAS
2019年第1期15-22,共8页
Journal of Apoplexy and Nervous Diseases
基金
新疆维吾尔自治区科技支疆资助项目(No.2016E02060)
